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LRRK2 mutations in Parkinson disease.

M Farrer1, J Stone, I F Mata

  • 1Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. farrer.matthew@mayo.edu

Neurology
|September 15, 2005
PubMed
Summary

Mutations in the LRRK2 gene are rare causes of idiopathic Parkinson disease (PD). This study found LRRK2 mutations in a small fraction of Parkinson disease patients and controls, indicating they are not a common cause.

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Area of Science:

  • Genetics
  • Neurodegenerative Diseases
  • Neurology

Background:

  • Idiopathic Parkinson disease (PD) is a common neurodegenerative disorder.
  • The genetic contribution to PD is complex, with several genes implicated.
  • LRRK2 (Leucine-rich repeat kinase 2) is a gene of interest in Parkinson disease research.

Purpose of the Study:

  • To investigate the frequency of LRRK2 mutations in a cohort of idiopathic Parkinson disease patients.
  • To determine if identified LRRK2 mutations are associated with disease onset or familial aggregation.

Main Methods:

  • Genotyping of 786 idiopathic PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 controls.
  • Development and application of allelic discrimination assays for nine specific LRRK2 mutations.

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Main Results:

  • Six PD probands, one affected sibling, one unaffected sibling, and one unrelated control carried identified LRRK2 mutations.
  • The overall frequency of these LRRK2 mutations in idiopathic PD was low.

Conclusions:

  • LRRK2 mutations are infrequent causes of idiopathic Parkinson disease.
  • The presence of LRRK2 mutations in unaffected individuals and controls suggests incomplete penetrance or other modifying factors.